Bardet-Biedl syndrome 9

Summary
Synonym
  • BBS9
Definition
A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
Super Class
Bardet-Biedl syndrome
Disease Ontology
DOID:0110131
Mondo Disease Ontology
MeSH
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27241 BBS9 Bardet-Biedl syndrome 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
319845 Bbs9 Bardet-Biedl syndrome 9

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024